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Variant (rsID / SNP)

rs200267243

FIG4

rs200267243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FIG4. Location: chromosome 6, position 110,146,286. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FIG4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:110146286
Cytoband
6q21
HGVS
NM_014845.6(FIG4):c.2547-5T>G
Allele change
Silent

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 11|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4J|Charcot-Marie-Tooth disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.